The PEX1 Gene Peroxisome Biogenesis Disorder Type 1B Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE, designed to detect mutations in the PEX1 gene, which are linked to Peroxisome Biogenesis Disorder Type 1B (PBD-ZSD). This condition is part of a spectrum of disorders that affect the normal function and formation of peroxisomes, cellular structures essential for various metabolic processes, including the breakdown of fatty acids and the detoxification of hydrogen peroxide.
Mutations in the PEX1 gene disrupt these critical functions, leading to a wide range of symptoms such as developmental delays, vision and hearing impairments, liver dysfunction, and abnormalities in bone formation. Early and accurate diagnosis through this genetic test can be crucial for managing symptoms, planning treatment strategies, and providing genetic counseling for affected families.
The test is conducted through a blood sample or cheek swab, utilizing advanced genetic sequencing techniques to identify mutations in the PEX1 gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results accurately. By opting for this test at DNA Labs UAE, patients and their families gain access to crucial information that can guide medical and lifestyle decisions, enhancing the quality of life for those affected by Peroxisome Biogenesis Disorder Type 1B.
The PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is a specialized diagnostic tool designed to identify mutations in the PEX5 gene, which are responsible for a rare genetic condition known as Peroxisome Biogenesis Disorder Type 2A (PBD Type 2A), also known as Zellweger syndrome spectrum (ZSS). This condition is characterized by a spectrum of clinical features that can include abnormalities in the brain, liver, and kidneys, as well as developmental delays and distinctive facial features.
The PEX5 gene plays a crucial role in the normal functioning and formation of peroxisomes, cellular structures that are essential for the breakdown of very long-chain fatty acids and the synthesis of certain lipids necessary for brain development and function. Mutations in the PEX5 gene disrupt these processes, leading to the accumulation of harmful substances in the body and the varied symptoms observed in affected individuals.
The test is available at DNA Labs UAE, a leading facility in genetic diagnostics and research. The cost of the PEX5 Gene Peroxisome Biogenesis Disorder Type 2A Genetic Test is set at 4400 AED. The procedure involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the PEX5 gene. Results from this test can provide crucial information for the diagnosis, management, and genetic counseling of affected families.
The "PEX5 Gene Peroxisome Biogenesis Disorder Type 2B Genetic Test" is a specialized diagnostic examination offered by DNA Labs UAE, aimed at identifying mutations in the PEX5 gene. These mutations are responsible for Peroxisome Biogenesis Disorder Type 2B (PBD-ZSD), a rare genetic condition that affects multiple systems of the body, leading to severe developmental and metabolic issues. The test, priced at 4400 AED, involves analyzing the patient's DNA to detect any abnormalities in the PEX5 gene, which plays a crucial role in the formation and functioning of peroxisomes. Peroxisomes are essential for cell metabolism, including the breakdown of fatty acids and the detoxification of hydrogen peroxide. An accurate diagnosis through this genetic test can lead to better management and treatment strategies for affected individuals, aiming to improve their quality of life and reduce the impact of symptoms.
The HSD17B4 gene plays a critical role in the development and function of the body, and mutations in this gene can lead to Perrault Syndrome, a rare genetic disorder characterized by sensorineural hearing loss in males and females and premature ovarian failure in females. To diagnose this condition, a specific genetic test targeting the HSD17B4 gene is available, providing crucial information for affected individuals and their families.
At DNA Labs UAE, this specialized test is conducted to identify mutations in the HSD17B4 gene, which is essential for confirming a diagnosis of Perrault Syndrome. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, and analyzing the genetic material for any abnormalities in the HSD17B4 gene.
The cost of the HSD17B4 gene Perrault Syndrome genetic test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect mutations in the gene, offering a pathway towards a definitive diagnosis. With this information, affected individuals can explore appropriate treatment options and management strategies for the symptoms of Perrault Syndrome, as well as receive genetic counseling to understand the implications for family planning and the risk of passing the condition on to future generations.
The GNE Gene Nonaka Myopathy Genetic Test is a specialized diagnostic examination available at DNA Labs UAE, aimed at identifying mutations in the GNE gene, which are associated with Nonaka Myopathy, also known as GNE Myopathy or Distal Myopathy with Rimmed Vacuoles (DMRV). Nonaka Myopathy is a rare genetic disorder characterized by progressive muscle weakness and wasting, primarily affecting the lower limbs before spreading to other parts of the body. Early and accurate detection through this genetic test can be crucial for the management and treatment of the condition.
The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or a cheek swab, which is then analyzed in the state-of-the-art facilities at DNA Labs UAE. The laboratory employs advanced genetic sequencing techniques to scrutinize the GNE gene for any mutations that might indicate the presence of Nonaka Myopathy. This test is essential for individuals with a family history of the disease or those exhibiting symptoms, as it can provide a definitive diagnosis, facilitating timely interventions and genetic counseling.
DNA Labs UAE is renowned for its commitment to accuracy, confidentiality, and support throughout the testing process, making it a trusted choice for genetic testing services in the region.
The NDP Gene Norrie Disease Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the NDP gene, which are responsible for Norrie disease. This rare genetic disorder primarily affects the eyes, leading to severe visual impairment or blindness from birth or early infancy. It may also cause progressive hearing loss and, in some cases, developmental delays or mental health issues. By analyzing the specific genetic markers associated with Norrie disease, this test can provide essential information for accurate diagnosis, enabling timely intervention and management strategies. The cost of the NDP Gene Norrie Disease Genetic Test at DNA Labs UAE is 4400 AED, reflecting the comprehensive analysis and the sophisticated technology employed to ensure precise results.
The MID1 Gene Opitz G/BBB Syndrome Genetic Test is a specialized diagnostic tool used to identify mutations in the MID1 gene, which are associated with Opitz G/BBB Syndrome. This condition is a genetic disorder characterized by a wide spectrum of symptoms, including developmental delays, distinctive facial features, and abnormalities in the midline of the body such as cleft lip or palate, heart defects, and genitourinary anomalies. The test aims to provide definitive genetic evidence for the syndrome, aiding in the diagnosis and allowing for targeted management and genetic counseling for affected families.
Performed at DNA Labs UAE, the test involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed for specific mutations in the MID1 gene. The cost of the test is 4400 AED, reflecting the comprehensive analysis and the specialized expertise required to interpret the results. Given the complexity of genetic disorders, this test is a crucial step in understanding the specific mutations that contribute to Opitz G/BBB Syndrome, enabling personalized treatment plans and supporting families in managing the condition.
The OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test is a specialized diagnostic tool designed to identify mutations in the OFD1 gene, which are associated with Oral-Facial-Digital Syndrome Type 1 (OFD1). This rare genetic disorder is characterized by a wide range of physical anomalies affecting the oral cavity, facial features, and digits. Symptoms may include abnormalities in the teeth, tongue, and lips, cleft palate, facial asymmetry, as well as malformations of the fingers and toes.
Performed at DNA Labs UAE, this test involves analyzing the patient's DNA to detect mutations in the OFD1 gene that are indicative of the syndrome. The process is aimed at individuals who exhibit symptoms of OFD1, as well as family members of those diagnosed with the condition, to assess their risk of carrying the gene mutation.
The cost of the OFD1 Gene Oral-Facial-Digital Syndrome Type 1 Genetic Test at DNA Labs UAE is 4400 AED. This price includes the collection of a DNA sample, usually through a blood draw or cheek swab, and the subsequent genetic analysis. The results from this test can provide valuable information for diagnosis, guiding treatment options, and offering insight into the inheritance pattern of the syndrome within families. It is a critical step towards personalized care and management of the condition, helping affected individuals and their families to understand their genetic makeup and its implications on their health.
The PANK2 gene pantothenate kinase-associated neurodegeneration genetic test is a specialized diagnostic procedure aimed at identifying mutations in the PANK2 gene, which are associated with a rare, inherited neurological disorder known as pantothenate kinase-associated neurodegeneration (PKAN). PKAN is characterized by a variety of symptoms including dystonia, spasticity, and neurodegeneration, and it typically manifests in childhood or early adolescence.
This genetic test involves analyzing the patient's DNA to detect mutations in the PANK2 gene that are linked to the development of PKAN. The process is crucial for confirming a diagnosis of PKAN, which can then guide treatment and management strategies for affected individuals.
The test is available at DNA Labs UAE, a reputable facility known for its advanced genetic testing services. The cost of the PANK2 gene pantothenate kinase-associated neurodegeneration genetic test at DNA Labs UAE is 4400 AED. Opting for this test at DNA Labs UAE ensures that patients receive accurate and reliable results, thanks to the lab's use of state-of-the-art technology and adherence to high standards of genetic analysis.
The SCN4A gene paramyotonia congenita of von Eulenburg genetic test is a specialized diagnostic examination aimed at identifying mutations in the SCN4A gene, which are responsible for the rare neuromuscular disorder known as paramyotonia congenita of von Eulenburg. This condition is characterized by episodes of muscle stiffness triggered by cold temperatures or prolonged muscle use, and it is inherited in an autosomal dominant pattern. The test is crucial for confirming the diagnosis, enabling appropriate management and genetic counseling for affected individuals and their families.
Conducted at DNA Labs UAE, this genetic test involves analyzing the patient's DNA to detect specific mutations in the SCN4A gene that are linked to the disorder. The process requires a sample of the patient's blood or saliva, from which DNA is extracted and examined for the presence of these mutations.
The cost of the SCN4A gene paramyotonia congenita of von Eulenburg genetic test at DNA Labs UAE is 4400 AED. This price reflects the specialized nature of the test, which includes the costs of laboratory procedures, analysis by genetic experts, and the provision of a comprehensive report detailing the findings. For patients and families affected by paramyotonia congenita of von Eulenburg, this test is a valuable tool for understanding their condition and making informed decisions about their health care and lifestyle.
